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Article

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.

Ophthalmology. Retina - 1 May 2023

Bianco Lorenzo, Arrigo Alessandro, Antropoli Alessio, Saladino Andrea, Spiga Ivana, Patricelli Maria Grazia, Bandello Francesco, Carrera Paola, Battaglia Parodi Maurizio

Abstract excerpt

PURPOSE: A broad spectrum of autosomal-dominant inherited retinal diseases (IRDs), ranging from mild macular pattern dystrophy to severe cone-rod degeneration, is associated with PRPH2 variants (peripherinopathies). We present detailed clinical and molecular characterization of patients affected by peripherinopathies, aiming to expand the mutational spectrum, and propose novel genotype-phenotype correlations....

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PMID: 36563963
DOI: 10.1016/j.oret.2022.12.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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